UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.151822730G>A | CA447226533 | GLRA1 | c.1293C>T (p.Asn431=) c.1317C>T (p.Asn439=) c.*1051C>T (n.*1051C>T) c.1044C>T (p.Asn348=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.151822730G>C | CA361849738 | GLRA1 | c.1293C>G (p.Asn431Lys) c.1317C>G (p.Asn439Lys) c.*1051C>G (n.*1051C>G) c.1044C>G (p.Asn348Lys) | |
| 5 | g.151822730G= | CA1591565205 | GLRA1 | c.1293C= (p.Asn431=) c.1317C= (p.Asn439=) c.*1051C= (n.*1051C=) c.1044C= (p.Asn348=) | |
| 5 | g.151822730G>T | CA361849739 | GLRA1 | c.1293C>A (p.Asn431Lys) c.1317C>A (p.Asn439Lys) c.*1051C>A (n.*1051C>A) c.1044C>A (p.Asn348Lys) | |
| 5 | g.151822731T>A | CA361849740 | GLRA1 | c.1292A>T (p.Asn431Ile) c.1316A>T (p.Asn439Ile) c.*1050A>T (n.*1050A>T) c.1043A>T (p.Asn348Ile) | gnomAD v4 |
| 5 | g.151822731T>C | CA3523465 | GLRA1 | c.1292A>G (p.Asn431Ser) c.1316A>G (p.Asn439Ser) c.*1050A>G (n.*1050A>G) c.1043A>G (p.Asn348Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151822731T>G | CA361849741 | GLRA1 | c.1292A>C (p.Asn431Thr) c.1316A>C (p.Asn439Thr) c.*1050A>C (n.*1050A>C) c.1043A>C (p.Asn348Thr) | |
| 5 | g.151822731T= | CA1591565206 | GLRA1 | c.1292A= (p.Asn431=) c.1316A= (p.Asn439=) c.*1050A= (n.*1050A=) c.1043A= (p.Asn348=) | |
| 5 | g.151822732T>A | CA361849742 | GLRA1 | c.1291A>T (p.Asn431Tyr) c.1315A>T (p.Asn439Tyr) c.*1049A>T (n.*1049A>T) c.1042A>T (p.Asn348Tyr) | |
| 5 | g.151822732T>C | CA361849743 | GLRA1 | c.1291A>G (p.Asn431Asp) c.1315A>G (p.Asn439Asp) c.*1049A>G (n.*1049A>G) c.1042A>G (p.Asn348Asp) | |
| 5 | g.151822732T>G | CA361849744 | GLRA1 | c.1291A>C (p.Asn431His) c.1315A>C (p.Asn439His) c.*1049A>C (n.*1049A>C) c.1042A>C (p.Asn348His) | |
| 5 | g.151822733G>A | CA447226534 | GLRA1 | c.1290C>T (p.Phe430=) c.1314C>T (p.Phe438=) c.*1048C>T (n.*1048C>T) c.1041C>T (p.Phe347=) | |
| 5 | g.151822733G>C | CA361849745 | GLRA1 | c.1290C>G (p.Phe430Leu) c.1314C>G (p.Phe438Leu) c.*1048C>G (n.*1048C>G) c.1041C>G (p.Phe347Leu) | |
| 5 | g.151822733G>T | CA361849746 | GLRA1 | c.1290C>A (p.Phe430Leu) c.1314C>A (p.Phe438Leu) c.*1048C>A (n.*1048C>A) c.1041C>A (p.Phe347Leu) | |
| 5 | g.151822734A>C | CA361849747 | GLRA1 | c.1289T>G (p.Phe430Cys) c.1313T>G (p.Phe438Cys) c.*1047T>G (n.*1047T>G) c.1040T>G (p.Phe347Cys) | |
| 5 | g.151822734A>G | CA361849748 | GLRA1 | c.1289T>C (p.Phe430Ser) c.1313T>C (p.Phe438Ser) c.*1047T>C (n.*1047T>C) c.1040T>C (p.Phe347Ser) | |
| 5 | g.151822734A>T | CA361849749 | GLRA1 | c.1289T>A (p.Phe430Tyr) c.1313T>A (p.Phe438Tyr) c.*1047T>A (n.*1047T>A) c.1040T>A (p.Phe347Tyr) | |
| 5 | g.151822735A>C | CA361849750 | GLRA1 | c.1288T>G (p.Phe430Val) c.1312T>G (p.Phe438Val) c.*1046T>G (n.*1046T>G) c.1039T>G (p.Phe347Val) | gnomAD v4 |
| 5 | g.151822735A>G | CA361849751 | GLRA1 | c.1288T>C (p.Phe430Leu) c.1312T>C (p.Phe438Leu) c.*1046T>C (n.*1046T>C) c.1039T>C (p.Phe347Leu) | |
| 5 | g.151822735A>T | CA361849752 | GLRA1 | c.1288T>A (p.Phe430Ile) c.1312T>A (p.Phe438Ile) c.*1046T>A (n.*1046T>A) c.1039T>A (p.Phe347Ile) | |
| 5 | g.151822736A= | CA1591565207 | GLRA1 | c.1287T= (p.Ile429=) c.1311T= (p.Ile437=) c.*1045T= (n.*1045T=) c.1038T= (p.Ile346=) | |
| 5 | g.151822736A>C | CA361849753 | GLRA1 | c.1287T>G (p.Ile429Met) c.1311T>G (p.Ile437Met) c.*1045T>G (n.*1045T>G) c.1038T>G (p.Ile346Met) | |
| 5 | g.151822736A>G | CA447226535 | GLRA1 | c.1287T>C (p.Ile429=) c.1311T>C (p.Ile437=) c.*1045T>C (n.*1045T>C) c.1038T>C (p.Ile346=) | dbSNP |
| 5 | g.151822736A>T | CA447226536 | GLRA1 | c.1287T>A (p.Ile429=) c.1311T>A (p.Ile437=) c.*1045T>A (n.*1045T>A) c.1038T>A (p.Ile346=) | |
| 5 | g.151822737A>C | CA361849756 | GLRA1 | c.1286T>G (p.Ile429Ser) c.1310T>G (p.Ile437Ser) c.*1044T>G (n.*1044T>G) c.1037T>G (p.Ile346Ser) | |
| 5 | g.151822737A>G | CA361849754 | GLRA1 | c.1286T>C (p.Ile429Thr) c.1310T>C (p.Ile437Thr) c.*1044T>C (n.*1044T>C) c.1037T>C (p.Ile346Thr) | ClinVar dbSNP gnomAD v4 |
| 5 | g.151822737A>T | CA361849755 | GLRA1 | c.1286T>A (p.Ile429Asn) c.1310T>A (p.Ile437Asn) c.*1044T>A (n.*1044T>A) c.1037T>A (p.Ile346Asn) | |
| 5 | g.151822738T>A | CA361849757 | GLRA1 | c.1285A>T (p.Ile429Phe) c.1309A>T (p.Ile437Phe) c.*1043A>T (n.*1043A>T) c.1036A>T (p.Ile346Phe) | |
| 5 | g.151822738T>C | CA361849758 | GLRA1 | c.1285A>G (p.Ile429Val) c.1309A>G (p.Ile437Val) c.*1043A>G (n.*1043A>G) c.1036A>G (p.Ile346Val) | gnomAD v4 COSMIC |
| 5 | g.151822738T>G | CA361849759 | GLRA1 | c.1285A>C (p.Ile429Leu) c.1309A>C (p.Ile437Leu) c.*1043A>C (n.*1043A>C) c.1036A>C (p.Ile346Leu) | |
| 5 | g.151822739G>A | CA447226539 | GLRA1 | c.1284C>T (p.Leu428=) c.1308C>T (p.Leu436=) c.*1042C>T (n.*1042C>T) c.1035C>T (p.Leu345=) | ClinVar dbSNP |
| 5 | g.151822739G>C | CA447226537 | GLRA1 | c.1284C>G (p.Leu428=) c.1308C>G (p.Leu436=) c.*1042C>G (n.*1042C>G) c.1035C>G (p.Leu345=) | |
| 5 | g.151822739G= | CA1591565208 | GLRA1 | c.1284C= (p.Leu428=) c.1308C= (p.Leu436=) c.*1042C= (n.*1042C=) c.1035C= (p.Leu345=) | |
| 5 | g.151822739G>T | CA447226538 | GLRA1 | c.1284C>A (p.Leu428=) c.1308C>A (p.Leu436=) c.*1042C>A (n.*1042C>A) c.1035C>A (p.Leu345=) | |
| 5 | g.151822740A>C | CA361849760 | GLRA1 | c.1283T>G (p.Leu428Arg) c.1307T>G (p.Leu436Arg) c.*1041T>G (n.*1041T>G) c.1034T>G (p.Leu345Arg) | gnomAD v4 |
| 5 | g.151822740A>G | CA361849761 | GLRA1 | c.1283T>C (p.Leu428Pro) c.1307T>C (p.Leu436Pro) c.*1041T>C (n.*1041T>C) c.1034T>C (p.Leu345Pro) | |
| 5 | g.151822740A>T | CA361849762 | GLRA1 | c.1283T>A (p.Leu428His) c.1307T>A (p.Leu436His) c.*1041T>A (n.*1041T>A) c.1034T>A (p.Leu345His) | |
| 5 | g.151822741G>A | CA361849763 | GLRA1 | c.1282C>T (p.Leu428Phe) c.1306C>T (p.Leu436Phe) c.*1040C>T (n.*1040C>T) c.1033C>T (p.Leu345Phe) | |
| 5 | g.151822741G>C | CA361849764 | GLRA1 | c.1282C>G (p.Leu428Val) c.1306C>G (p.Leu436Val) c.*1040C>G (n.*1040C>G) c.1033C>G (p.Leu345Val) | |
| 5 | g.151822741G>T | CA361849765 | GLRA1 | c.1282C>A (p.Leu428Ile) c.1306C>A (p.Leu436Ile) c.*1040C>A (n.*1040C>A) c.1033C>A (p.Leu345Ile) | |
| 5 | g.151822742del | CA2676107589 | GLRA1 | c.1282del (p.Leu428SerfsTer?) c.1306del (p.Leu436SerfsTer?) c.*1040del (n.*1040del) c.1033del (p.Leu345SerfsTer?) | gnomAD v4 |
| 5 | g.151822742G>A | CA447226541 | GLRA1 | c.1281C>T (p.Phe427=) c.1305C>T (p.Phe435=) c.*1039C>T (n.*1039C>T) c.1032C>T (p.Phe344=) | |
| 5 | g.151822742G>C | CA361849766 | GLRA1 | c.1281C>G (p.Phe427Leu) c.1305C>G (p.Phe435Leu) c.*1039C>G (n.*1039C>G) c.1032C>G (p.Phe344Leu) | gnomAD v4 |
| 5 | g.151822742G>T | CA361849767 | GLRA1 | c.1281C>A (p.Phe427Leu) c.1305C>A (p.Phe435Leu) c.*1039C>A (n.*1039C>A) c.1032C>A (p.Phe344Leu) | |
| 5 | g.151822743A>C | CA361849770 | GLRA1 | c.1280T>G (p.Phe427Cys) c.1304T>G (p.Phe435Cys) c.*1038T>G (n.*1038T>G) c.1031T>G (p.Phe344Cys) | |
| 5 | g.151822743A>G | CA361849768 | GLRA1 | c.1280T>C (p.Phe427Ser) c.1304T>C (p.Phe435Ser) c.*1038T>C (n.*1038T>C) c.1031T>C (p.Phe344Ser) | gnomAD v4 |
| 5 | g.151822743A>T | CA361849769 | GLRA1 | c.1280T>A (p.Phe427Tyr) c.1304T>A (p.Phe435Tyr) c.*1038T>A (n.*1038T>A) c.1031T>A (p.Phe344Tyr) | |
| 5 | g.151822744A= | CA1591565209 | GLRA1 | c.1279T= (p.Phe427=) c.1303T= (p.Phe435=) c.*1037T= (n.*1037T=) c.1030T= (p.Phe344=) | |
| 5 | g.151822744A>C | CA361849771 | GLRA1 | c.1279T>G (p.Phe427Val) c.1303T>G (p.Phe435Val) c.*1037T>G (n.*1037T>G) c.1030T>G (p.Phe344Val) | |
| 5 | g.151822744A>G | CA361849772 | GLRA1 | c.1279T>C (p.Phe427Leu) c.1303T>C (p.Phe435Leu) c.*1037T>C (n.*1037T>C) c.1030T>C (p.Phe344Leu) | dbSNP |
| 5 | g.151822744A>T | CA361849773 | GLRA1 | c.1279T>A (p.Phe427Ile) c.1303T>A (p.Phe435Ile) c.*1037T>A (n.*1037T>A) c.1030T>A (p.Phe344Ile) | |
| 5 | g.151822745G>A | CA130006147 | GLRA1 | c.1278C>T (p.Ala426=) c.1302C>T (p.Ala434=) c.*1036C>T (n.*1036C>T) c.1029C>T (p.Ala343=) | dbSNP |
| 5 | g.151822745G>C | CA447226542 | GLRA1 | c.1278C>G (p.Ala426=) c.1302C>G (p.Ala434=) c.*1036C>G (n.*1036C>G) c.1029C>G (p.Ala343=) | |
| 5 | g.151822745G= | CA1591565210 | GLRA1 | c.1278C= (p.Ala426=) c.1302C= (p.Ala434=) c.*1036C= (n.*1036C=) c.1029C= (p.Ala343=) | |
| 5 | g.151822745G>T | CA447226543 | GLRA1 | c.1278C>A (p.Ala426=) c.1302C>A (p.Ala434=) c.*1036C>A (n.*1036C>A) c.1029C>A (p.Ala343=) | |
| 5 | g.151822746G>A | CA361849774 | GLRA1 | c.1277C>T (p.Ala426Val) c.1301C>T (p.Ala434Val) c.*1035C>T (n.*1035C>T) c.1028C>T (p.Ala343Val) | |
| 5 | g.151822746G>C | CA361849775 | GLRA1 | c.1277C>G (p.Ala426Gly) c.1301C>G (p.Ala434Gly) c.*1035C>G (n.*1035C>G) c.1028C>G (p.Ala343Gly) | |
| 5 | g.151822746G= | CA1591565211 | GLRA1 | c.1277C= (p.Ala426=) c.1301C= (p.Ala434=) c.*1035C= (n.*1035C=) c.1028C= (p.Ala343=) | |
| 5 | g.151822746G>T | CA130006148 | GLRA1 | c.1277C>A (p.Ala426Asp) c.1301C>A (p.Ala434Asp) c.*1035C>A (n.*1035C>A) c.1028C>A (p.Ala343Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151822747C>A | CA361849776 | GLRA1 | c.1276G>T (p.Ala426Ser) c.1300G>T (p.Ala434Ser) c.*1034G>T (n.*1034G>T) c.1027G>T (p.Ala343Ser) | |
| 5 | g.151822747C>G | CA361849777 | GLRA1 | c.1276G>C (p.Ala426Pro) c.1300G>C (p.Ala434Pro) c.*1034G>C (n.*1034G>C) c.1027G>C (p.Ala343Pro) | |
| 5 | g.151822747C>T | CA361849778 | GLRA1 | c.1276G>A (p.Ala426Thr) c.1300G>A (p.Ala434Thr) c.*1034G>A (n.*1034G>A) c.1027G>A (p.Ala343Thr) | |
| 5 | g.151822748C>A | CA361849779 | GLRA1 | c.1275G>T (p.Met425Ile) c.1299G>T (p.Met433Ile) c.*1033G>T (n.*1033G>T) c.1026G>T (p.Met342Ile) | |
| 5 | g.151822748C>G | CA361849780 | GLRA1 | c.1275G>C (p.Met425Ile) c.1299G>C (p.Met433Ile) c.*1033G>C (n.*1033G>C) c.1026G>C (p.Met342Ile) | |
| 5 | g.151822748C>T | CA361849781 | GLRA1 | c.1275G>A (p.Met425Ile) c.1299G>A (p.Met433Ile) c.*1033G>A (n.*1033G>A) c.1026G>A (p.Met342Ile) | COSMIC |
| 5 | g.151822749A= | CA1591565212 | GLRA1 | c.1274T= (p.Met425=) c.1298T= (p.Met433=) c.*1032T= (n.*1032T=) c.1025T= (p.Met342=) | |
| 5 | g.151822749A>C | CA361849783 | GLRA1 | c.1274T>G (p.Met425Arg) c.1298T>G (p.Met433Arg) c.*1032T>G (n.*1032T>G) c.1025T>G (p.Met342Arg) | |
| 5 | g.151822749A>G | CA3523466 | GLRA1 | c.1274T>C (p.Met425Thr) c.1298T>C (p.Met433Thr) c.*1032T>C (n.*1032T>C) c.1025T>C (p.Met342Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822749A>T | CA361849782 | GLRA1 | c.1274T>A (p.Met425Lys) c.1298T>A (p.Met433Lys) c.*1032T>A (n.*1032T>A) c.1025T>A (p.Met342Lys) | dbSNP |
| 5 | g.151822750T>A | CA361849784 | GLRA1 | c.1273A>T (p.Met425Leu) c.1297A>T (p.Met433Leu) c.*1031A>T (n.*1031A>T) c.1024A>T (p.Met342Leu) | |
| 5 | g.151822750T>C | CA130006153 | GLRA1 | c.1273A>G (p.Met425Val) c.1297A>G (p.Met433Val) c.*1031A>G (n.*1031A>G) c.1024A>G (p.Met342Val) | ClinVar dbSNP gnomAD v4 |
| 5 | g.151822750T>G | CA361849785 | GLRA1 | c.1273A>C (p.Met425Leu) c.1297A>C (p.Met433Leu) c.*1031A>C (n.*1031A>C) c.1024A>C (p.Met342Leu) | |
| 5 | g.151822750T= | CA1591565213 | GLRA1 | c.1273A= (p.Met425=) c.1297A= (p.Met433=) c.*1031A= (n.*1031A=) c.1024A= (p.Met342=) | |
| 5 | g.151822751G>A | CA447226544 | GLRA1 | c.1272C>T (p.Pro424=) c.1296C>T (p.Pro432=) c.*1030C>T (n.*1030C>T) c.1023C>T (p.Pro341=) | |
| 5 | g.151822751G>C | CA447226545 | GLRA1 | c.1272C>G (p.Pro424=) c.1296C>G (p.Pro432=) c.*1030C>G (n.*1030C>G) c.1023C>G (p.Pro341=) | |
| 5 | g.151822751G>T | CA447226546 | GLRA1 | c.1272C>A (p.Pro424=) c.1296C>A (p.Pro432=) c.*1030C>A (n.*1030C>A) c.1023C>A (p.Pro341=) | gnomAD v4 |
| 5 | g.151822753_151822754dup | CA563632967 | GLRA1 | c.1271_1272dup (p.Met425ProfsTer?) c.1295_1296dup (p.Met433ProfsTer?) c.*1029_*1030dup (n.*1029_*1030dup) c.1022_1023dup (p.Met342ProfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151822752G>A | CA361849786 | GLRA1 | c.1271C>T (p.Pro424Leu) c.1295C>T (p.Pro432Leu) c.*1029C>T (n.*1029C>T) c.1022C>T (p.Pro341Leu) | |
| 5 | g.151822752G>C | CA361849787 | GLRA1 | c.1271C>G (p.Pro424Arg) c.1295C>G (p.Pro432Arg) c.*1029C>G (n.*1029C>G) c.1022C>G (p.Pro341Arg) | |
| 5 | g.151822752G>T | CA361849788 | GLRA1 | c.1271C>A (p.Pro424His) c.1295C>A (p.Pro432His) c.*1029C>A (n.*1029C>A) c.1022C>A (p.Pro341His) | |
| 5 | g.151822753G>A | CA361849789 | GLRA1 | c.1270C>T (p.Pro424Ser) c.1294C>T (p.Pro432Ser) c.*1028C>T (n.*1028C>T) c.1021C>T (p.Pro341Ser) | |
| 5 | g.151822753G>C | CA361849790 | GLRA1 | c.1270C>G (p.Pro424Ala) c.1294C>G (p.Pro432Ala) c.*1028C>G (n.*1028C>G) c.1021C>G (p.Pro341Ala) | |
| 5 | g.151822753G>T | CA361849791 | GLRA1 | c.1270C>A (p.Pro424Thr) c.1294C>A (p.Pro432Thr) c.*1028C>A (n.*1028C>A) c.1021C>A (p.Pro341Thr) | |
| 5 | g.151822754G>A | CA447226548 | GLRA1 | c.1269C>T (p.Phe423=) c.1293C>T (p.Phe431=) c.*1027C>T (n.*1027C>T) c.1020C>T (p.Phe340=) | |
| 5 | g.151822754G>C | CA361849793 | GLRA1 | c.1269C>G (p.Phe423Leu) c.1293C>G (p.Phe431Leu) c.*1027C>G (n.*1027C>G) c.1020C>G (p.Phe340Leu) | |
| 5 | g.151822754G>T | CA361849792 | GLRA1 | c.1269C>A (p.Phe423Leu) c.1293C>A (p.Phe431Leu) c.*1027C>A (n.*1027C>A) c.1020C>A (p.Phe340Leu) | |
| 5 | g.151822755A>C | CA361849794 | GLRA1 | c.1268T>G (p.Phe423Cys) c.1292T>G (p.Phe431Cys) c.*1026T>G (n.*1026T>G) c.1019T>G (p.Phe340Cys) | |
| 5 | g.151822755A>G | CA361849795 | GLRA1 | c.1268T>C (p.Phe423Ser) c.1292T>C (p.Phe431Ser) c.*1026T>C (n.*1026T>C) c.1019T>C (p.Phe340Ser) | |
| 5 | g.151822755A>T | CA361849796 | GLRA1 | c.1268T>A (p.Phe423Tyr) c.1292T>A (p.Phe431Tyr) c.*1026T>A (n.*1026T>A) c.1019T>A (p.Phe340Tyr) | |
| 5 | g.151822756A>C | CA361849797 | GLRA1 | c.1267T>G (p.Phe423Val) c.1291T>G (p.Phe431Val) c.*1025T>G (n.*1025T>G) c.1018T>G (p.Phe340Val) | |
| 5 | g.151822756A>G | CA361849798 | GLRA1 | c.1267T>C (p.Phe423Leu) c.1291T>C (p.Phe431Leu) c.*1025T>C (n.*1025T>C) c.1018T>C (p.Phe340Leu) | gnomAD v4 |
| 5 | g.151822756A>T | CA361849799 | GLRA1 | c.1267T>A (p.Phe423Ile) c.1291T>A (p.Phe431Ile) c.*1025T>A (n.*1025T>A) c.1018T>A (p.Phe340Ile) | |
| 5 | g.151822757G>A | CA447226549 | GLRA1 | c.1266C>T (p.Gly422=) c.1290C>T (p.Gly430=) c.*1024C>T (n.*1024C>T) c.1017C>T (p.Gly339=) | |
| 5 | g.151822757G>C | CA447226550 | GLRA1 | c.1266C>G (p.Gly422=) c.1290C>G (p.Gly430=) c.*1024C>G (n.*1024C>G) c.1017C>G (p.Gly339=) | |
| 5 | g.151822757G>T | CA447226551 | GLRA1 | c.1266C>A (p.Gly422=) c.1290C>A (p.Gly430=) c.*1024C>A (n.*1024C>A) c.1017C>A (p.Gly339=) | |
| 5 | g.151822758C>A | CA361849802 | GLRA1 | c.1265G>T (p.Gly422Val) c.1289G>T (p.Gly430Val) c.*1023G>T (n.*1023G>T) c.1016G>T (p.Gly339Val) | |
| 5 | g.151822758C>G | CA361849800 | GLRA1 | c.1265G>C (p.Gly422Ala) c.1289G>C (p.Gly430Ala) c.*1023G>C (n.*1023G>C) c.1016G>C (p.Gly339Ala) | |
| 5 | g.151822758C>T | CA361849801 | GLRA1 | c.1265G>A (p.Gly422Asp) c.1289G>A (p.Gly430Asp) c.*1023G>A (n.*1023G>A) c.1016G>A (p.Gly339Asp) | ClinVar dbSNP gnomAD v4 |
| 5 | g.151822759C>A | CA361849803 | GLRA1 | c.1264G>T (p.Gly422Cys) c.1288G>T (p.Gly430Cys) c.*1022G>T (n.*1022G>T) c.1015G>T (p.Gly339Cys) | |
| 5 | g.151822759C>G | CA361849804 | GLRA1 | c.1264G>C (p.Gly422Arg) c.1288G>C (p.Gly430Arg) c.*1022G>C (n.*1022G>C) c.1015G>C (p.Gly339Arg) | |
| 5 | g.151822759C>T | CA361849805 | GLRA1 | c.1264G>A (p.Gly422Ser) c.1288G>A (p.Gly430Ser) c.*1022G>A (n.*1022G>A) c.1015G>A (p.Gly339Ser) | |
| 5 | g.151822760A>C | CA361849806 | GLRA1 | c.1263T>G (p.Ile421Met) c.1287T>G (p.Ile429Met) c.*1021T>G (n.*1021T>G) c.1014T>G (p.Ile338Met) | |
| 5 | g.151822760A>G | CA447226553 | GLRA1 | c.1263T>C (p.Ile421=) c.1287T>C (p.Ile429=) c.*1021T>C (n.*1021T>C) c.1014T>C (p.Ile338=) | |
| 5 | g.151822760A>T | CA447226552 | GLRA1 | c.1263T>A (p.Ile421=) c.1287T>A (p.Ile429=) c.*1021T>A (n.*1021T>A) c.1014T>A (p.Ile338=) | |
| 5 | g.151822761A= | CA1591565214 | GLRA1 | c.1262T= (p.Ile421=) c.1286T= (p.Ile429=) c.*1020T= (n.*1020T=) c.1013T= (p.Ile338=) | |
| 5 | g.151822761A>C | CA361849807 | GLRA1 | c.1262T>G (p.Ile421Ser) c.1286T>G (p.Ile429Ser) c.*1020T>G (n.*1020T>G) c.1013T>G (p.Ile338Ser) | |
| 5 | g.151822761A>G | CA3523467 | GLRA1 | c.1262T>C (p.Ile421Thr) c.1286T>C (p.Ile429Thr) c.*1020T>C (n.*1020T>C) c.1013T>C (p.Ile338Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822761A>T | CA361849808 | GLRA1 | c.1262T>A (p.Ile421Asn) c.1286T>A (p.Ile429Asn) c.*1020T>A (n.*1020T>A) c.1013T>A (p.Ile338Asn) | dbSNP gnomAD v4 |
| 5 | g.151822762T>A | CA361849809 | GLRA1 | c.1261A>T (p.Ile421Phe) c.1285A>T (p.Ile429Phe) c.*1019A>T (n.*1019A>T) c.1012A>T (p.Ile338Phe) | |
| 5 | g.151822762T>C | CA3523468 | GLRA1 | c.1261A>G (p.Ile421Val) c.1285A>G (p.Ile429Val) c.*1019A>G (n.*1019A>G) c.1012A>G (p.Ile338Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151822762T>G | CA361849810 | GLRA1 | c.1261A>C (p.Ile421Leu) c.1285A>C (p.Ile429Leu) c.*1019A>C (n.*1019A>C) c.1012A>C (p.Ile338Leu) | |
| 5 | g.151822762T= | CA1591565215 | GLRA1 | c.1261A= (p.Ile421=) c.1285A= (p.Ile429=) c.*1019A= (n.*1019A=) c.1012A= (p.Ile338=) | |
| 5 | g.151822763G>A | CA447226554 | GLRA1 | c.1260C>T (p.Arg420=) c.1284C>T (p.Arg428=) c.*1018C>T (n.*1018C>T) c.1011C>T (p.Arg337=) | |
| 5 | g.151822763G>C | CA447226555 | GLRA1 | c.1260C>G (p.Arg420=) c.1284C>G (p.Arg428=) c.*1018C>G (n.*1018C>G) c.1011C>G (p.Arg337=) | |
| 5 | g.151822763G>T | CA447226556 | GLRA1 | c.1260C>A (p.Arg420=) c.1284C>A (p.Arg428=) c.*1018C>A (n.*1018C>A) c.1011C>A (p.Arg337=) | |
| 5 | g.151822764C>A | CA361849811 | GLRA1 | c.1259G>T (p.Arg420Leu) c.1283G>T (p.Arg428Leu) c.*1017G>T (n.*1017G>T) c.1010G>T (p.Arg337Leu) | |
| 5 | g.151822764C= | CA1591565216 | GLRA1 | c.1259G= (p.Arg420=) c.1283G= (p.Arg428=) c.*1017G= (n.*1017G=) c.1010G= (p.Arg337=) | |
| 5 | g.151822764C>G | CA361849812 | GLRA1 | c.1259G>C (p.Arg420Pro) c.1283G>C (p.Arg428Pro) c.*1017G>C (n.*1017G>C) c.1010G>C (p.Arg337Pro) | |
| 5 | g.151822764C>T | CA356537 | GLRA1 | c.1259G>A (p.Arg420His) c.1283G>A (p.Arg428His) c.*1017G>A (n.*1017G>A) c.1010G>A (p.Arg337His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.151822765G>A | CA3523469 | GLRA1 | c.1258C>T (p.Arg420Cys) c.1282C>T (p.Arg428Cys) c.*1016C>T (n.*1016C>T) c.1009C>T (p.Arg337Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822765G>C | CA361849814 | GLRA1 | c.1258C>G (p.Arg420Gly) c.1282C>G (p.Arg428Gly) c.*1016C>G (n.*1016C>G) c.1009C>G (p.Arg337Gly) | |
| 5 | g.151822765G= | CA1591565217 | GLRA1 | c.1258C= (p.Arg420=) c.1282C= (p.Arg428=) c.*1016C= (n.*1016C=) c.1009C= (p.Arg337=) | |
| 5 | g.151822765G>T | CA361849813 | GLRA1 | c.1258C>A (p.Arg420Ser) c.1282C>A (p.Arg428Ser) c.*1016C>A (n.*1016C>A) c.1009C>A (p.Arg337Ser) | COSMIC |
| 5 | g.151822766G>A | CA447226557 | GLRA1 | c.1257C>T (p.Ser419=) c.1281C>T (p.Ser427=) c.*1015C>T (n.*1015C>T) c.1008C>T (p.Ser336=) | |
| 5 | g.151822766G>C | CA447226559 | GLRA1 | c.1257C>G (p.Ser419=) c.1281C>G (p.Ser427=) c.*1015C>G (n.*1015C>G) c.1008C>G (p.Ser336=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151822766G= | CA1591565218 | GLRA1 | c.1257C= (p.Ser419=) c.1281C= (p.Ser427=) c.*1015C= (n.*1015C=) c.1008C= (p.Ser336=) | |
| 5 | g.151822766G>T | CA447226558 | GLRA1 | c.1257C>A (p.Ser419=) c.1281C>A (p.Ser427=) c.*1015C>A (n.*1015C>A) c.1008C>A (p.Ser336=) | gnomAD v4 |
| 5 | g.151822767G>A | CA361849815 | GLRA1 | c.1256C>T (p.Ser419Phe) c.1280C>T (p.Ser427Phe) c.*1014C>T (n.*1014C>T) c.1007C>T (p.Ser336Phe) | gnomAD v4 |
| 5 | g.151822767G>C | CA361849816 | GLRA1 | c.1256C>G (p.Ser419Cys) c.1280C>G (p.Ser427Cys) c.*1014C>G (n.*1014C>G) c.1007C>G (p.Ser336Cys) | |
| 5 | g.151822767G>T | CA361849817 | GLRA1 | c.1256C>A (p.Ser419Tyr) c.1280C>A (p.Ser427Tyr) c.*1014C>A (n.*1014C>A) c.1007C>A (p.Ser336Tyr) | |
| 5 | g.151822768A>C | CA361849818 | GLRA1 | c.1255T>G (p.Ser419Ala) c.1279T>G (p.Ser427Ala) c.*1013T>G (n.*1013T>G) c.1006T>G (p.Ser336Ala) | |
| 5 | g.151822768A>G | CA361849819 | GLRA1 | c.1255T>C (p.Ser419Pro) c.1279T>C (p.Ser427Pro) c.*1013T>C (n.*1013T>C) c.1006T>C (p.Ser336Pro) | gnomAD v4 |
| 5 | g.151822768A>T | CA361849820 | GLRA1 | c.1255T>A (p.Ser419Thr) c.1279T>A (p.Ser427Thr) c.*1013T>A (n.*1013T>A) c.1006T>A (p.Ser336Thr) | gnomAD v4 |
| 5 | g.151822769T>A | CA447226561 | GLRA1 | c.1254A>T (p.Ile418=) c.1278A>T (p.Ile426=) c.*1012A>T (n.*1012A>T) c.1005A>T (p.Ile335=) | |
| 5 | g.151822769T>C | CA361849821 | GLRA1 | c.1254A>G (p.Ile418Met) c.1278A>G (p.Ile426Met) c.*1012A>G (n.*1012A>G) c.1005A>G (p.Ile335Met) | |
| 5 | g.151822769T>G | CA447226562 | GLRA1 | c.1254A>C (p.Ile418=) c.1278A>C (p.Ile426=) c.*1012A>C (n.*1012A>C) c.1005A>C (p.Ile335=) | |
| 5 | g.151822770A= | CA1591565219 | GLRA1 | c.1253T= (p.Ile418=) c.1277T= (p.Ile426=) c.*1011T= (n.*1011T=) c.1004T= (p.Ile335=) | |
| 5 | g.151822770A>C | CA361849822 | GLRA1 | c.1253T>G (p.Ile418Arg) c.1277T>G (p.Ile426Arg) c.*1011T>G (n.*1011T>G) c.1004T>G (p.Ile335Arg) | |
| 5 | g.151822770A>G | CA361849823 | GLRA1 | c.1253T>C (p.Ile418Thr) c.1277T>C (p.Ile426Thr) c.*1011T>C (n.*1011T>C) c.1004T>C (p.Ile335Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151822770A>T | CA361849824 | GLRA1 | c.1253T>A (p.Ile418Lys) c.1277T>A (p.Ile426Lys) c.*1011T>A (n.*1011T>A) c.1004T>A (p.Ile335Lys) | |
| 5 | g.151822771T>A | CA361849825 | GLRA1 | c.1252A>T (p.Ile418Leu) c.1276A>T (p.Ile426Leu) c.*1010A>T (n.*1010A>T) c.1003A>T (p.Ile335Leu) | |
| 5 | g.151822771T>C | CA361849826 | GLRA1 | c.1252A>G (p.Ile418Val) c.1276A>G (p.Ile426Val) c.*1010A>G (n.*1010A>G) c.1003A>G (p.Ile335Val) | |
| 5 | g.151822771T>G | CA361849827 | GLRA1 | c.1252A>C (p.Ile418Leu) c.1276A>C (p.Ile426Leu) c.*1010A>C (n.*1010A>C) c.1003A>C (p.Ile335Leu) | |
| 5 | g.151822772T>A | CA361849828 | GLRA1 | c.1251A>T (p.Lys417Asn) c.1275A>T (p.Lys425Asn) c.*1009A>T (n.*1009A>T) c.1002A>T (p.Lys334Asn) | |
| 5 | g.151822772T>C | CA447226563 | GLRA1 | c.1251A>G (p.Lys417=) c.1275A>G (p.Lys425=) c.*1009A>G (n.*1009A>G) c.1002A>G (p.Lys334=) | |
| 5 | g.151822772T>G | CA361849829 | GLRA1 | c.1251A>C (p.Lys417Asn) c.1275A>C (p.Lys425Asn) c.*1009A>C (n.*1009A>C) c.1002A>C (p.Lys334Asn) | gnomAD v4 |
| 5 | g.151822773T>A | CA361849830 | GLRA1 | c.1250A>T (p.Lys417Ile) c.1274A>T (p.Lys425Ile) c.*1008A>T (n.*1008A>T) c.1001A>T (p.Lys334Ile) | |
| 5 | g.151822773T>C | CA361849831 | GLRA1 | c.1250A>G (p.Lys417Arg) c.1274A>G (p.Lys425Arg) c.*1008A>G (n.*1008A>G) c.1001A>G (p.Lys334Arg) | |
| 5 | g.151822773T>G | CA361849832 | GLRA1 | c.1250A>C (p.Lys417Thr) c.1274A>C (p.Lys425Thr) c.*1008A>C (n.*1008A>C) c.1001A>C (p.Lys334Thr) | |
| 5 | g.151822774T>A | CA361849833 | GLRA1 | c.1249A>T (p.Lys417Ter) c.1273A>T (p.Lys425Ter) c.*1007A>T (n.*1007A>T) c.1000A>T (p.Lys334Ter) | |
| 5 | g.151822774T>C | CA361849834 | GLRA1 | c.1249A>G (p.Lys417Glu) c.1273A>G (p.Lys425Glu) c.*1007A>G (n.*1007A>G) c.1000A>G (p.Lys334Glu) | gnomAD v4 |
| 5 | g.151822774T>G | CA361849835 | GLRA1 | c.1249A>C (p.Lys417Gln) c.1273A>C (p.Lys425Gln) c.*1007A>C (n.*1007A>C) c.1000A>C (p.Lys334Gln) | |
| 5 | g.151822775G>A | CA447226564 | GLRA1 | c.1248C>T (p.Asp416=) c.1272C>T (p.Asp424=) c.*1006C>T (n.*1006C>T) c.999C>T (p.Asp333=) | |
| 5 | g.151822775G>C | CA3523470 | GLRA1 | c.1248C>G (p.Asp416Glu) c.1272C>G (p.Asp424Glu) c.*1006C>G (n.*1006C>G) c.999C>G (p.Asp333Glu) | dbSNP ExAC gnomAD v2 |
| 5 | g.151822775G= | CA1591565220 | GLRA1 | c.1248C= (p.Asp416=) c.1272C= (p.Asp424=) c.*1006C= (n.*1006C=) c.999C= (p.Asp333=) | |
| 5 | g.151822775G>T | CA361849836 | GLRA1 | c.1248C>A (p.Asp416Glu) c.1272C>A (p.Asp424Glu) c.*1006C>A (n.*1006C>A) c.999C>A (p.Asp333Glu) | COSMIC |
| 5 | g.151822776T>A | CA361849837 | GLRA1 | c.1247A>T (p.Asp416Val) c.1271A>T (p.Asp424Val) c.*1005A>T (n.*1005A>T) c.998A>T (p.Asp333Val) | |
| 5 | g.151822776T>C | CA361849838 | GLRA1 | c.1247A>G (p.Asp416Gly) c.1271A>G (p.Asp424Gly) c.*1005A>G (n.*1005A>G) c.998A>G (p.Asp333Gly) | |
| 5 | g.151822776T>G | CA361849839 | GLRA1 | c.1247A>C (p.Asp416Ala) c.1271A>C (p.Asp424Ala) c.*1005A>C (n.*1005A>C) c.998A>C (p.Asp333Ala) | gnomAD v4 |
| 5 | g.151822777C>A | CA361849842 | GLRA1 | c.1246G>T (p.Asp416Tyr) c.1270G>T (p.Asp424Tyr) c.*1004G>T (n.*1004G>T) c.997G>T (p.Asp333Tyr) | |
| 5 | g.151822777C= | CA1591565221 | GLRA1 | c.1246G= (p.Asp416=) c.1270G= (p.Asp424=) c.*1004G= (n.*1004G=) c.997G= (p.Asp333=) | |
| 5 | g.151822777C>G | CA361849841 | GLRA1 | c.1246G>C (p.Asp416His) c.1270G>C (p.Asp424His) c.*1004G>C (n.*1004G>C) c.997G>C (p.Asp333His) | |
| 5 | g.151822777C>T | CA361849840 | GLRA1 | c.1246G>A (p.Asp416Asn) c.1270G>A (p.Asp424Asn) c.*1004G>A (n.*1004G>A) c.997G>A (p.Asp333Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151822778G>A | CA3523472 | GLRA1 | c.1245C>T (p.Ile415=) c.1269C>T (p.Ile423=) c.*1003C>T (n.*1003C>T) c.996C>T (p.Ile332=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822778G>C | CA3523471 | GLRA1 | c.1245C>G (p.Ile415Met) c.1269C>G (p.Ile423Met) c.*1003C>G (n.*1003C>G) c.996C>G (p.Ile332Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822778G= | CA1591565222 | GLRA1 | c.1245C= (p.Ile415=) c.1269C= (p.Ile423=) c.*1003C= (n.*1003C=) c.996C= (p.Ile332=) | |
| 5 | g.151822778G>T | CA447226565 | GLRA1 | c.1245C>A (p.Ile415=) c.1269C>A (p.Ile423=) c.*1003C>A (n.*1003C>A) c.996C>A (p.Ile332=) | gnomAD v4 |
| 5 | g.151822779A>C | CA361849843 | GLRA1 | c.1244T>G (p.Ile415Ser) c.1268T>G (p.Ile423Ser) c.*1002T>G (n.*1002T>G) c.995T>G (p.Ile332Ser) | |
| 5 | g.151822779A>G | CA361849844 | GLRA1 | c.1244T>C (p.Ile415Thr) c.1268T>C (p.Ile423Thr) c.*1002T>C (n.*1002T>C) c.995T>C (p.Ile332Thr) | gnomAD v4 |
| 5 | g.151822779A>T | CA361849845 | GLRA1 | c.1244T>A (p.Ile415Asn) c.1268T>A (p.Ile423Asn) c.*1002T>A (n.*1002T>A) c.995T>A (p.Ile332Asn) | |
| 5 | g.151822779_151822782delinsATCT | CA1591565223 | GLRA1 | c.1241_1244delinsAGAT (p.Lys414=) c.1265_1268delinsAGAT (p.Lys422=) c.*999_*1002delinsAGAT (n.*999_*1002delinsAGAT) c.992_995delinsAGAT (p.Lys331=) | |
| 5 | g.151822780T>A | CA361849846 | GLRA1 | c.1243A>T (p.Ile415Phe) c.1267A>T (p.Ile423Phe) c.*1001A>T (n.*1001A>T) c.994A>T (p.Ile332Phe) | |
| 5 | g.151822780T>C | CA361849847 | GLRA1 | c.1243A>G (p.Ile415Val) c.1267A>G (p.Ile423Val) c.*1001A>G (n.*1001A>G) c.994A>G (p.Ile332Val) | |
| 5 | g.151822780T>G | CA361849848 | GLRA1 | c.1243A>C (p.Ile415Leu) c.1267A>C (p.Ile423Leu) c.*1001A>C (n.*1001A>C) c.994A>C (p.Ile332Leu) | |
| 5 | g.151822784_151822786del | CA3523473 | GLRA1 | c.1241_1243del (p.Lys414del) c.1265_1267del (p.Lys422del) c.*999_*1001del (n.*999_*1001del) c.992_994del (p.Lys331del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822781C>A | CA361849849 | GLRA1 | c.1242G>T (p.Lys414Asn) c.1266G>T (p.Lys422Asn) c.*1000G>T (n.*1000G>T) c.993G>T (p.Lys331Asn) | |
| 5 | g.151822781C>G | CA361849850 | GLRA1 | c.1242G>C (p.Lys414Asn) c.1266G>C (p.Lys422Asn) c.*1000G>C (n.*1000G>C) c.993G>C (p.Lys331Asn) | |
| 5 | g.151822781C>T | CA447226566 | GLRA1 | c.1242G>A (p.Lys414=) c.1266G>A (p.Lys422=) c.*1000G>A (n.*1000G>A) c.993G>A (p.Lys331=) | |
| 5 | g.151822782T>A | CA3523474 | GLRA1 | c.1241A>T (p.Lys414Met) c.1265A>T (p.Lys422Met) c.*999A>T (n.*999A>T) c.992A>T (p.Lys331Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822782T>C | CA361849851 | GLRA1 | c.1241A>G (p.Lys414Arg) c.1265A>G (p.Lys422Arg) c.*999A>G (n.*999A>G) c.992A>G (p.Lys331Arg) | gnomAD v4 |
| 5 | g.151822782T>G | CA361849852 | GLRA1 | c.1241A>C (p.Lys414Thr) c.1265A>C (p.Lys422Thr) c.*999A>C (n.*999A>C) c.992A>C (p.Lys331Thr) | |
| 5 | g.151822782T= | CA1591565224 | GLRA1 | c.1241A= (p.Lys414=) c.1265A= (p.Lys422=) c.*999A= (n.*999A=) c.992A= (p.Lys331=) | |
| 5 | g.151822783T>A | CA361849854 | GLRA1 | c.1240A>T (p.Lys414Ter) c.1264A>T (p.Lys422Ter) c.*998A>T (n.*998A>T) c.991A>T (p.Lys331Ter) | |
| 5 | g.151822783T>C | CA361849853 | GLRA1 | c.1240A>G (p.Lys414Glu) c.1264A>G (p.Lys422Glu) c.*998A>G (n.*998A>G) c.991A>G (p.Lys331Glu) | gnomAD v4 |
| 5 | g.151822783T>G | CA130006197 | GLRA1 | c.1240A>C (p.Lys414Gln) c.1264A>C (p.Lys422Gln) c.*998A>C (n.*998A>C) c.991A>C (p.Lys331Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151822783T= | CA1591565225 | GLRA1 | c.1240A= (p.Lys414=) c.1264A= (p.Lys422=) c.*998A= (n.*998A=) c.991A= (p.Lys331=) | |
| 5 | g.151822784C>A | CA361849855 | GLRA1 | c.1239G>T (p.Lys413Asn) c.1263G>T (p.Lys421Asn) c.*997G>T (n.*997G>T) c.990G>T (p.Lys330Asn) | |
| 5 | g.151822784C>G | CA361849856 | GLRA1 | c.1239G>C (p.Lys413Asn) c.1263G>C (p.Lys421Asn) c.*997G>C (n.*997G>C) c.990G>C (p.Lys330Asn) | gnomAD v4 |
| 5 | g.151822784C>T | CA447226567 | GLRA1 | c.1239G>A (p.Lys413=) c.1263G>A (p.Lys421=) c.*997G>A (n.*997G>A) c.990G>A (p.Lys330=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 5 | g.151822785T>A | CA361849857 | GLRA1 | c.1238A>T (p.Lys413Met) c.1262A>T (p.Lys421Met) c.*996A>T (n.*996A>T) c.989A>T (p.Lys330Met) | |
| 5 | g.151822785T>C | CA361849858 | GLRA1 | c.1238A>G (p.Lys413Arg) c.1262A>G (p.Lys421Arg) c.*996A>G (n.*996A>G) c.989A>G (p.Lys330Arg) | |
| 5 | g.151822785T>G | CA361849859 | GLRA1 | c.1238A>C (p.Lys413Thr) c.1262A>C (p.Lys421Thr) c.*996A>C (n.*996A>C) c.989A>C (p.Lys330Thr) | dbSNP |
| 5 | g.151822785T= | CA1591565226 | GLRA1 | c.1238A= (p.Lys413=) c.1262A= (p.Lys421=) c.*996A= (n.*996A=) c.989A= (p.Lys330=) | |
| 5 | g.151822786T>A | CA361849860 | GLRA1 | c.1237A>T (p.Lys413Ter) c.1261A>T (p.Lys421Ter) c.*995A>T (n.*995A>T) c.988A>T (p.Lys330Ter) | |
| 5 | g.151822786T>C | CA361849861 | GLRA1 | c.1237A>G (p.Lys413Glu) c.1261A>G (p.Lys421Glu) c.*995A>G (n.*995A>G) c.988A>G (p.Lys330Glu) | ClinVar dbSNP |
| 5 | g.151822786T>G | CA361849862 | GLRA1 | c.1237A>C (p.Lys413Gln) c.1261A>C (p.Lys421Gln) c.*995A>C (n.*995A>C) c.988A>C (p.Lys330Gln) | gnomAD v4 |
| 5 | g.151822787G>A | CA447226568 | GLRA1 | c.1236C>T (p.Ala412=) c.1260C>T (p.Ala420=) c.*994C>T (n.*994C>T) c.987C>T (p.Ala329=) | |
| 5 | g.151822787G>C | CA447226569 | GLRA1 | c.1236C>G (p.Ala412=) c.1260C>G (p.Ala420=) c.*994C>G (n.*994C>G) c.987C>G (p.Ala329=) | |
| 5 | g.151822787G>T | CA447226570 | GLRA1 | c.1236C>A (p.Ala412=) c.1260C>A (p.Ala420=) c.*994C>A (n.*994C>A) c.987C>A (p.Ala329=) | |
| 5 | g.151822788G>A | CA361849863 | GLRA1 | c.1235C>T (p.Ala412Val) c.1259C>T (p.Ala420Val) c.*993C>T (n.*993C>T) c.986C>T (p.Ala329Val) | gnomAD v4 |
| 5 | g.151822788G>C | CA361849864 | GLRA1 | c.1235C>G (p.Ala412Gly) c.1259C>G (p.Ala420Gly) c.*993C>G (n.*993C>G) c.986C>G (p.Ala329Gly) | |
| 5 | g.151822788G>T | CA361849865 | GLRA1 | c.1235C>A (p.Ala412Asp) c.1259C>A (p.Ala420Asp) c.*993C>A (n.*993C>A) c.986C>A (p.Ala329Asp) | |
| 5 | g.151822788_151822789delinsGC | CA1591565227 | GLRA1 | c.1234_1235delinsGC (p.Ala412=) c.1258_1259delinsGC (p.Ala420=) c.*992_*993delinsGC (n.*992_*993delinsGC) c.985_986delinsGC (p.Ala329=) | |
| 5 | g.151822789C>A | CA361849867 | GLRA1 | c.1234G>T (p.Ala412Ser) c.1258G>T (p.Ala420Ser) c.*992G>T (n.*992G>T) c.985G>T (p.Ala329Ser) | |
| 5 | g.151822789C= | CA1591565228 | GLRA1 | c.1234G= (p.Ala412=) c.1258G= (p.Ala420=) c.*992G= (n.*992G=) c.985G= (p.Ala329=) | |
| 5 | g.151822789C>G | CA361849868 | GLRA1 | c.1234G>C (p.Ala412Pro) c.1258G>C (p.Ala420Pro) c.*992G>C (n.*992G>C) c.985G>C (p.Ala329Pro) | |
| 5 | g.151822789C>T | CA361849866 | GLRA1 | c.1234G>A (p.Ala412Thr) c.1258G>A (p.Ala420Thr) c.*992G>A (n.*992G>A) c.985G>A (p.Ala329Thr) | ClinVar dbSNP gnomAD v4 |
| 5 | g.151822791del | CA3523475 | GLRA1 | c.1234del (p.Ala412ProfsTer?) c.1258del (p.Ala420ProfsTer?) c.*992del (n.*992del) c.985del (p.Ala329ProfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151822790C>A | CA361849869 | GLRA1 | c.1233G>T (p.Arg411Ser) c.1257G>T (p.Arg419Ser) c.*991G>T (n.*991G>T) c.984G>T (p.Arg328Ser) | |
| 5 | g.151822790C>G | CA361849870 | GLRA1 | c.1233G>C (p.Arg411Ser) c.1257G>C (p.Arg419Ser) c.*991G>C (n.*991G>C) c.984G>C (p.Arg328Ser) | gnomAD v4 |
| 5 | g.151822790C>T | CA447226571 | GLRA1 | c.1233G>A (p.Arg411=) c.1257G>A (p.Arg419=) c.*991G>A (n.*991G>A) c.984G>A (p.Arg328=) | COSMIC |
| 5 | g.151822791C>A | CA361849871 | GLRA1 | c.1232G>T (p.Arg411Met) c.1256G>T (p.Arg419Met) c.*990G>T (n.*990G>T) c.983G>T (p.Arg328Met) | |
| 5 | g.151822791C= | CA1591565229 | GLRA1 | c.1232G= (p.Arg411=) c.1256G= (p.Arg419=) c.*990G= (n.*990G=) c.983G= (p.Arg328=) | |
| 5 | g.151822791C>G | CA361849872 | GLRA1 | c.1232G>C (p.Arg411Thr) c.1256G>C (p.Arg419Thr) c.*990G>C (n.*990G>C) c.983G>C (p.Arg328Thr) | dbSNP |
| 5 | g.151822791C>T | CA361849873 | GLRA1 | c.1232G>A (p.Arg411Lys) c.1256G>A (p.Arg419Lys) c.*990G>A (n.*990G>A) c.983G>A (p.Arg328Lys) | gnomAD v4 |
| 5 | g.151822792T>A | CA361849874 | GLRA1 | c.1231A>T (p.Arg411Trp) c.1255A>T (p.Arg419Trp) c.*989A>T (n.*989A>T) c.982A>T (p.Arg328Trp) | |
| 5 | g.151822792T>C | CA361849875 | GLRA1 | c.1231A>G (p.Arg411Gly) c.1255A>G (p.Arg419Gly) c.*989A>G (n.*989A>G) c.982A>G (p.Arg328Gly) | |
| 5 | g.151822792T>G | CA447226572 | GLRA1 | c.1231A>C (p.Arg411=) c.1255A>C (p.Arg419=) c.*989A>C (n.*989A>C) c.982A>C (p.Arg328=) | |
| 5 | g.151822793C>A | CA361849876 | GLRA1 | c.1230G>T (p.Gln410His) c.1254G>T (p.Gln418His) c.*988G>T (n.*988G>T) c.981G>T (p.Gln327His) | |
| 5 | g.151822793C>G | CA361849877 | GLRA1 | c.1230G>C (p.Gln410His) c.1254G>C (p.Gln418His) c.*988G>C (n.*988G>C) c.981G>C (p.Gln327His) | |
| 5 | g.151822793C>T | CA447226573 | GLRA1 | c.1230G>A (p.Gln410=) c.1254G>A (p.Gln418=) c.*988G>A (n.*988G>A) c.981G>A (p.Gln327=) | |
| 5 | g.151822793_151822794insGT | CA2768928613 | GLRA1 | c.1229_1230insAC (p.Ala412GlyfsTer?) c.1253_1254insAC (p.Ala420GlyfsTer?) c.*987_*988insAC (n.*987_*988insAC) c.980_981insAC (p.Ala329GlyfsTer?) | |
| 5 | g.151822794T>A | CA361849878 | GLRA1 | c.1229A>T (p.Gln410Leu) c.1253A>T (p.Gln418Leu) c.*987A>T (n.*987A>T) c.980A>T (p.Gln327Leu) | |
| 5 | g.151822794T>C | CA361849879 | GLRA1 | c.1229A>G (p.Gln410Arg) c.1253A>G (p.Gln418Arg) c.*987A>G (n.*987A>G) c.980A>G (p.Gln327Arg) | |
| 5 | g.151822794T>G | CA3523476 | GLRA1 | c.1229A>C (p.Gln410Pro) c.1253A>C (p.Gln418Pro) c.*987A>C (n.*987A>C) c.980A>C (p.Gln327Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822794T= | CA1591565230 | GLRA1 | c.1229A= (p.Gln410=) c.1253A= (p.Gln418=) c.*987A= (n.*987A=) c.980A= (p.Gln327=) | |
| 5 | g.151822795G>A | CA361849881 | GLRA1 | c.1228C>T (p.Gln410Ter) c.1252C>T (p.Gln418Ter) c.*986C>T (n.*986C>T) c.979C>T (p.Gln327Ter) | |
| 5 | g.151822795G>C | CA361849882 | GLRA1 | c.1228C>G (p.Gln410Glu) c.1252C>G (p.Gln418Glu) c.*986C>G (n.*986C>G) c.979C>G (p.Gln327Glu) | |
| 5 | g.151822795G>T | CA361849880 | GLRA1 | c.1228C>A (p.Gln410Lys) c.1252C>A (p.Gln418Lys) c.*986C>A (n.*986C>A) c.979C>A (p.Gln327Lys) | |
| 5 | g.151822796G>A | CA447226574 | GLRA1 | c.1227C>T (p.Ile409=) c.1251C>T (p.Ile417=) c.*985C>T (n.*985C>T) c.978C>T (p.Ile326=) | |
| 5 | g.151822796G>C | CA361849883 | GLRA1 | c.1227C>G (p.Ile409Met) c.1251C>G (p.Ile417Met) c.*985C>G (n.*985C>G) c.978C>G (p.Ile326Met) | |
| 5 | g.151822796G>T | CA447226575 | GLRA1 | c.1227C>A (p.Ile409=) c.1251C>A (p.Ile417=) c.*985C>A (n.*985C>A) c.978C>A (p.Ile326=) | |
| 5 | g.151822797A>C | CA361849884 | GLRA1 | c.1226T>G (p.Ile409Ser) c.1250T>G (p.Ile417Ser) c.*984T>G (n.*984T>G) c.977T>G (p.Ile326Ser) | |
| 5 | g.151822797A>G | CA361849885 | GLRA1 | c.1226T>C (p.Ile409Thr) c.1250T>C (p.Ile417Thr) c.*984T>C (n.*984T>C) c.977T>C (p.Ile326Thr) | gnomAD v4 |
| 5 | g.151822797A>T | CA361849886 | GLRA1 | c.1226T>A (p.Ile409Asn) c.1250T>A (p.Ile417Asn) c.*984T>A (n.*984T>A) c.977T>A (p.Ile326Asn) | ClinVar gnomAD v4 |
| 5 | g.151822798T>A | CA361849889 | GLRA1 | c.1225A>T (p.Ile409Phe) c.1249A>T (p.Ile417Phe) c.*983A>T (n.*983A>T) c.976A>T (p.Ile326Phe) | |
| 5 | g.151822798T>C | CA361849888 | GLRA1 | c.1225A>G (p.Ile409Val) c.1249A>G (p.Ile417Val) c.*983A>G (n.*983A>G) c.976A>G (p.Ile326Val) | COSMIC |
| 5 | g.151822798T>G | CA361849887 | GLRA1 | c.1225A>C (p.Ile409Leu) c.1249A>C (p.Ile417Leu) c.*983A>C (n.*983A>C) c.976A>C (p.Ile326Leu) | |
| 5 | g.151822799G>A | CA3523477 | GLRA1 | c.1224C>T (p.Phe408=) c.1248C>T (p.Phe416=) c.*982C>T (n.*982C>T) c.975C>T (p.Phe325=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822799G>C | CA361849890 | GLRA1 | c.1224C>G (p.Phe408Leu) c.1248C>G (p.Phe416Leu) c.*982C>G (n.*982C>G) c.975C>G (p.Phe325Leu) | |
| 5 | g.151822799G= | CA1591565231 | GLRA1 | c.1224C= (p.Phe408=) c.1248C= (p.Phe416=) c.*982C= (n.*982C=) c.975C= (p.Phe325=) | |
| 5 | g.151822799G>T | CA361849891 | GLRA1 | c.1224C>A (p.Phe408Leu) c.1248C>A (p.Phe416Leu) c.*982C>A (n.*982C>A) c.975C>A (p.Phe325Leu) | |
| 5 | g.151822800A>C | CA361849892 | GLRA1 | c.1223T>G (p.Phe408Cys) c.1247T>G (p.Phe416Cys) c.*981T>G (n.*981T>G) c.974T>G (p.Phe325Cys) | |
| 5 | g.151822800A>G | CA361849893 | GLRA1 | c.1223T>C (p.Phe408Ser) c.1247T>C (p.Phe416Ser) c.*981T>C (n.*981T>C) c.974T>C (p.Phe325Ser) | gnomAD v4 |
| 5 | g.151822800A>T | CA361849894 | GLRA1 | c.1223T>A (p.Phe408Tyr) c.1247T>A (p.Phe416Tyr) c.*981T>A (n.*981T>A) c.974T>A (p.Phe325Tyr) | |
| 5 | g.151822801del | CA2768928623 | GLRA1 | c.1223del (p.Phe408SerfsTer?) c.1247del (p.Phe416SerfsTer?) c.*981del (n.*981del) c.974del (p.Phe325SerfsTer?) | |
| 5 | g.151822801A= | CA1591565232 | GLRA1 | c.1222T= (p.Phe408=) c.1246T= (p.Phe416=) c.*980T= (n.*980T=) c.973T= (p.Phe325=) | |
| 5 | g.151822801A>C | CA361849896 | GLRA1 | c.1222T>G (p.Phe408Val) c.1246T>G (p.Phe416Val) c.*980T>G (n.*980T>G) c.973T>G (p.Phe325Val) | gnomAD v4 |
| 5 | g.151822801A>G | CA361849895 | GLRA1 | c.1222T>C (p.Phe408Leu) c.1246T>C (p.Phe416Leu) c.*980T>C (n.*980T>C) c.973T>C (p.Phe325Leu) | |
| 5 | g.151822801A>T | CA130006212 | GLRA1 | c.1222T>A (p.Phe408Ile) c.1246T>A (p.Phe416Ile) c.*980T>A (n.*980T>A) c.973T>A (p.Phe325Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151822802G>A | CA447226576 | GLRA1 | c.1221C>T (p.Leu407=) c.1245C>T (p.Leu415=) c.*979C>T (n.*979C>T) c.972C>T (p.Leu324=) | |
| 5 | g.151822802G>C | CA447226577 | GLRA1 | c.1221C>G (p.Leu407=) c.1245C>G (p.Leu415=) c.*979C>G (n.*979C>G) c.972C>G (p.Leu324=) | |
| 5 | g.151822802G>T | CA447226578 | GLRA1 | c.1221C>A (p.Leu407=) c.1245C>A (p.Leu415=) c.*979C>A (n.*979C>A) c.972C>A (p.Leu324=) | |
| 5 | g.151822803A>C | CA361849897 | GLRA1 | c.1220T>G (p.Leu407Arg) c.1244T>G (p.Leu415Arg) c.*978T>G (n.*978T>G) c.971T>G (p.Leu324Arg) | |
| 5 | g.151822803A>G | CA361849899 | GLRA1 | c.1220T>C (p.Leu407Pro) c.1244T>C (p.Leu415Pro) c.*978T>C (n.*978T>C) c.971T>C (p.Leu324Pro) | gnomAD v4 |
| 5 | g.151822803A>T | CA361849898 | GLRA1 | c.1220T>A (p.Leu407His) c.1244T>A (p.Leu415His) c.*978T>A (n.*978T>A) c.971T>A (p.Leu324His) | |
| 5 | g.151822804G>A | CA361849900 | GLRA1 | c.1219C>T (p.Leu407Phe) c.1243C>T (p.Leu415Phe) c.*977C>T (n.*977C>T) c.970C>T (p.Leu324Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151822804G>C | CA361849902 | GLRA1 | c.1219C>G (p.Leu407Val) c.1243C>G (p.Leu415Val) c.*977C>G (n.*977C>G) c.970C>G (p.Leu324Val) | |
| 5 | g.151822804G= | CA1591565233 | GLRA1 | c.1219C= (p.Leu407=) c.1243C= (p.Leu415=) c.*977C= (n.*977C=) c.970C= (p.Leu324=) | |
| 5 | g.151822804G>T | CA361849901 | GLRA1 | c.1219C>A (p.Leu407Ile) c.1243C>A (p.Leu415Ile) c.*977C>A (n.*977C>A) c.970C>A (p.Leu324Ile) | |
| 5 | g.151822805T>A | CA361849903 | GLRA1 | c.1218A>T (p.Lys406Asn) c.1242A>T (p.Lys414Asn) c.*976A>T (n.*976A>T) c.969A>T (p.Lys323Asn) | gnomAD v4 |
| 5 | g.151822805T>C | CA447226579 | GLRA1 | c.1218A>G (p.Lys406=) c.1242A>G (p.Lys414=) c.*976A>G (n.*976A>G) c.969A>G (p.Lys323=) | |
| 5 | g.151822805T>G | CA361849904 | GLRA1 | c.1218A>C (p.Lys406Asn) c.1242A>C (p.Lys414Asn) c.*976A>C (n.*976A>C) c.969A>C (p.Lys323Asn) | ClinVar gnomAD v4 |
| 5 | g.151822806T>A | CA361849905 | GLRA1 | c.1217A>T (p.Lys406Ile) c.1241A>T (p.Lys414Ile) c.*975A>T (n.*975A>T) c.968A>T (p.Lys323Ile) | |
| 5 | g.151822806T>C | CA361849906 | GLRA1 | c.1217A>G (p.Lys406Arg) c.1241A>G (p.Lys414Arg) c.*975A>G (n.*975A>G) c.968A>G (p.Lys323Arg) | |
| 5 | g.151822806T>G | CA361849907 | GLRA1 | c.1217A>C (p.Lys406Thr) c.1241A>C (p.Lys414Thr) c.*975A>C (n.*975A>C) c.968A>C (p.Lys323Thr) | gnomAD v4 |
| 5 | g.151822807T>A | CA361849908 | GLRA1 | c.1216A>T (p.Lys406Ter) c.1240A>T (p.Lys414Ter) c.*974A>T (n.*974A>T) c.967A>T (p.Lys323Ter) | |
| 5 | g.151822807T>C | CA361849909 | GLRA1 | c.1216A>G (p.Lys406Glu) c.1240A>G (p.Lys414Glu) c.*974A>G (n.*974A>G) c.967A>G (p.Lys323Glu) | dbSNP gnomAD v4 |
| 5 | g.151822807T>G | CA361849910 | GLRA1 | c.1216A>C (p.Lys406Gln) c.1240A>C (p.Lys414Gln) c.*974A>C (n.*974A>C) c.967A>C (p.Lys323Gln) | |
| 5 | g.151822807T= | CA1591565234 | GLRA1 | c.1216A= (p.Lys406=) c.1240A= (p.Lys414=) c.*974A= (n.*974A=) c.967A= (p.Lys323=) | |
| 5 | g.151822808T>A | CA3523478 | GLRA1 | c.1215A>T (p.Arg405=) c.1239A>T (p.Arg413=) c.*973A>T (n.*973A>T) c.966A>T (p.Arg322=) | dbSNP ExAC gnomAD v2 |
| 5 | g.151822808T>C | CA447226580 | GLRA1 | c.1215A>G (p.Arg405=) c.1239A>G (p.Arg413=) c.*973A>G (n.*973A>G) c.966A>G (p.Arg322=) | |
| 5 | g.151822808T>G | CA447226581 | GLRA1 | c.1215A>C (p.Arg405=) c.1239A>C (p.Arg413=) c.*973A>C (n.*973A>C) c.966A>C (p.Arg322=) | |
| 5 | g.151822808T= | CA1591565235 | GLRA1 | c.1215A= (p.Arg405=) c.1239A= (p.Arg413=) c.*973A= (n.*973A=) c.966A= (p.Arg322=) | |
| 5 | g.151822809C>A | CA3523480 | GLRA1 | c.1214G>T (p.Arg405Leu) c.1238G>T (p.Arg413Leu) c.*972G>T (n.*972G>T) c.965G>T (p.Arg322Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822809C= | CA1591565236 | GLRA1 | c.1214G= (p.Arg405=) c.1238G= (p.Arg413=) c.*972G= (n.*972G=) c.965G= (p.Arg322=) | |
| 5 | g.151822809C>G | CA361849911 | GLRA1 | c.1214G>C (p.Arg405Pro) c.1238G>C (p.Arg413Pro) c.*972G>C (n.*972G>C) c.965G>C (p.Arg322Pro) | |
| 5 | g.151822809C>T | CA3523479 | GLRA1 | c.1214G>A (p.Arg405Gln) c.1238G>A (p.Arg413Gln) c.*972G>A (n.*972G>A) c.965G>A (p.Arg322Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822810G>A | CA3523481 | GLRA1 | c.1213C>T (p.Arg405Ter) c.1237C>T (p.Arg413Ter) c.*971C>T (n.*971C>T) c.964C>T (p.Arg322Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151822810G>C | CA130006241 | GLRA1 | c.1213C>G (p.Arg405Gly) c.1237C>G (p.Arg413Gly) c.*971C>G (n.*971C>G) c.964C>G (p.Arg322Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151822810G= | CA1591565237 | GLRA1 | c.1213C= (p.Arg405=) c.1237C= (p.Arg413=) c.*971C= (n.*971C=) c.964C= (p.Arg322=) | |
| 5 | g.151822810G>T | CA447226582 | GLRA1 | c.1213C>A (p.Arg405=) c.1237C>A (p.Arg413=) c.*971C>A (n.*971C>A) c.964C>A (p.Arg322=) | |
| 5 | g.151822811C>A | CA361849912 | GLRA1 | c.1212G>T (p.Met404Ile) c.1236G>T (p.Met412Ile) c.*970G>T (n.*970G>T) c.963G>T (p.Met321Ile) | |
| 5 | g.151822811C= | CA1591565238 | GLRA1 | c.1212G= (p.Met404=) c.1236G= (p.Met412=) c.*970G= (n.*970G=) c.963G= (p.Met321=) | |
| 5 | g.151822811C>G | CA361849913 | GLRA1 | c.1212G>C (p.Met404Ile) c.1236G>C (p.Met412Ile) c.*970G>C (n.*970G>C) c.963G>C (p.Met321Ile) | |
| 5 | g.151822811C>T | CA361849914 | GLRA1 | c.1212G>A (p.Met404Ile) c.1236G>A (p.Met412Ile) c.*970G>A (n.*970G>A) c.963G>A (p.Met321Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151822812A= | CA1591565239 | GLRA1 | c.1211T= (p.Met404=) c.1235T= (p.Met412=) c.*969T= (n.*969T=) c.962T= (p.Met321=) | |
| 5 | g.151822812A>C | CA361849915 | GLRA1 | c.1211T>G (p.Met404Arg) c.1235T>G (p.Met412Arg) c.*969T>G (n.*969T>G) c.962T>G (p.Met321Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822812A>G | CA361849916 | GLRA1 | c.1211T>C (p.Met404Thr) c.1235T>C (p.Met412Thr) c.*969T>C (n.*969T>C) c.962T>C (p.Met321Thr) | |
| 5 | g.151822812A>T | CA361849917 | GLRA1 | c.1211T>A (p.Met404Lys) c.1235T>A (p.Met412Lys) c.*969T>A (n.*969T>A) c.962T>A (p.Met321Lys) | |
| 5 | g.151822813T>A | CA130006246 | GLRA1 | c.1210A>T (p.Met404Leu) c.1234A>T (p.Met412Leu) c.*968A>T (n.*968A>T) c.961A>T (p.Met321Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151822813T>C | CA3523483 | GLRA1 | c.1210A>G (p.Met404Val) c.1234A>G (p.Met412Val) c.*968A>G (n.*968A>G) c.961A>G (p.Met321Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151822813T>G | CA130006248 | GLRA1 | c.1210A>C (p.Met404Leu) c.1234A>C (p.Met412Leu) c.*968A>C (n.*968A>C) c.961A>C (p.Met321Leu) | dbSNP |
| 5 | g.151822813T= | CA1591565240 | GLRA1 | c.1210A= (p.Met404=) c.1234A= (p.Met412=) c.*968A= (n.*968A=) c.961A= (p.Met321=) | |
| 5 | g.151822813_151822816delinsTCTC | CA1591565241 | GLRA1 | c.1207_1210delinsGAGA (p.Glu403=) c.1231_1234delinsGAGA (p.Glu411=) c.*965_*968delinsGAGA (n.*965_*968delinsGAGA) c.958_961delinsGAGA (p.Glu320=) | |
| 5 | g.151822814C>A | CA361849918 | GLRA1 | c.1209G>T (p.Glu403Asp) c.1233G>T (p.Glu411Asp) c.*967G>T (n.*967G>T) c.960G>T (p.Glu320Asp) | gnomAD v4 |
| 5 | g.151822814C>G | CA361849919 | GLRA1 | c.1209G>C (p.Glu403Asp) c.1233G>C (p.Glu411Asp) c.*967G>C (n.*967G>C) c.960G>C (p.Glu320Asp) | |
| 5 | g.151822814C>T | CA447226583 | GLRA1 | c.1209G>A (p.Glu403=) c.1233G>A (p.Glu411=) c.*967G>A (n.*967G>A) c.960G>A (p.Glu320=) | COSMIC |
| 5 | g.151822817_151822819del | CA3523482 | GLRA1 | c.1207_1209del (p.Glu403del) c.1231_1233del (p.Glu411del) c.*965_*967del (n.*965_*967del) c.958_960del (p.Glu320del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.151822815T>A | CA361849920 | GLRA1 | c.1208A>T (p.Glu403Val) c.1232A>T (p.Glu411Val) c.*966A>T (n.*966A>T) c.959A>T (p.Glu320Val) | |
| 5 | g.151822815T>C | CA361849921 | GLRA1 | c.1208A>G (p.Glu403Gly) c.1232A>G (p.Glu411Gly) c.*966A>G (n.*966A>G) c.959A>G (p.Glu320Gly) | gnomAD v4 |
| 5 | g.151822815T>G | CA361849922 | GLRA1 | c.1208A>C (p.Glu403Ala) c.1232A>C (p.Glu411Ala) c.*966A>C (n.*966A>C) c.959A>C (p.Glu320Ala) | |
| 5 | g.151822816C>A | CA361849923 | GLRA1 | c.1207G>T (p.Glu403Ter) c.1231G>T (p.Glu411Ter) c.*965G>T (n.*965G>T) c.958G>T (p.Glu320Ter) | gnomAD v4 |
| 5 | g.151822816C= | CA1591565242 | GLRA1 | c.1207G= (p.Glu403=) c.1231G= (p.Glu411=) c.*965G= (n.*965G=) c.958G= (p.Glu320=) | |
| 5 | g.151822816C>G | CA361849924 | GLRA1 | c.1207G>C (p.Glu403Gln) c.1231G>C (p.Glu411Gln) c.*965G>C (n.*965G>C) c.958G>C (p.Glu320Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822816C>T | CA361849925 | GLRA1 | c.1207G>A (p.Glu403Lys) c.1231G>A (p.Glu411Lys) c.*965G>A (n.*965G>A) c.958G>A (p.Glu320Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.151822817C>A | CA361849926 | GLRA1 | c.1206G>T (p.Glu402Asp) c.1230G>T (p.Glu410Asp) c.*964G>T (n.*964G>T) c.957G>T (p.Glu319Asp) | |
| 5 | g.151822817C= | CA1591565243 | GLRA1 | c.1206G= (p.Glu402=) c.1230G= (p.Glu410=) c.*964G= (n.*964G=) c.957G= (p.Glu319=) | |
| 5 | g.151822817C>G | CA361849927 | GLRA1 | c.1206G>C (p.Glu402Asp) c.1230G>C (p.Glu410Asp) c.*964G>C (n.*964G>C) c.957G>C (p.Glu319Asp) | dbSNP |
| 5 | g.151822817C>T | CA447226584 | GLRA1 | c.1206G>A (p.Glu402=) c.1230G>A (p.Glu410=) c.*964G>A (n.*964G>A) c.957G>A (p.Glu319=) | gnomAD v4 |
| 5 | g.151822818T>A | CA361849928 | GLRA1 | c.1205A>T (p.Glu402Val) c.1229A>T (p.Glu410Val) c.*963A>T (n.*963A>T) c.956A>T (p.Glu319Val) | |
| 5 | g.151822818T>C | CA361849929 | GLRA1 | c.1205A>G (p.Glu402Gly) c.1229A>G (p.Glu410Gly) c.*963A>G (n.*963A>G) c.956A>G (p.Glu319Gly) | gnomAD v4 |
| 5 | g.151822818T>G | CA361849930 | GLRA1 | c.1205A>C (p.Glu402Ala) c.1229A>C (p.Glu410Ala) c.*963A>C (n.*963A>C) c.956A>C (p.Glu319Ala) | |
| 5 | g.151822819C>A | CA361849933 | GLRA1 | c.1204G>T (p.Glu402Ter) c.1228G>T (p.Glu410Ter) c.*962G>T (n.*962G>T) c.955G>T (p.Glu319Ter) | |
| 5 | g.151822819C= | CA1591565244 | GLRA1 | c.1204G= (p.Glu402=) c.1228G= (p.Glu410=) c.*962G= (n.*962G=) c.955G= (p.Glu319=) | |
| 5 | g.151822819C>G | CA361849935 | GLRA1 | c.1204G>C (p.Glu402Gln) c.1228G>C (p.Glu410Gln) c.*962G>C (n.*962G>C) c.955G>C (p.Glu319Gln) | dbSNP |
| 5 | g.151822819C>T | CA361849937 | GLRA1 | c.1204G>A (p.Glu402Lys) c.1228G>A (p.Glu410Lys) c.*962G>A (n.*962G>A) c.955G>A (p.Glu319Lys) | ClinVar dbSNP |
| 5 | g.151822820T>A | CA447226587 | GLRA1 | c.1203A>T (p.Pro401=) c.1227A>T (p.Pro409=) c.*961A>T (n.*961A>T) c.954A>T (p.Pro318=) | |
| 5 | g.151822820T>C | CA447226586 | GLRA1 | c.1203A>G (p.Pro401=) c.1227A>G (p.Pro409=) c.*961A>G (n.*961A>G) c.954A>G (p.Pro318=) | |
| 5 | g.151822820T>G | CA447226585 | GLRA1 | c.1203A>C (p.Pro401=) c.1227A>C (p.Pro409=) c.*961A>C (n.*961A>C) c.954A>C (p.Pro318=) | |
| 5 | g.151822821G>A | CA361849945 | GLRA1 | c.1202C>T (p.Pro401Leu) c.1226C>T (p.Pro409Leu) c.*960C>T (n.*960C>T) c.953C>T (p.Pro318Leu) | |
| 5 | g.151822821G>C | CA361849943 | GLRA1 | c.1202C>G (p.Pro401Arg) c.1226C>G (p.Pro409Arg) c.*960C>G (n.*960C>G) c.953C>G (p.Pro318Arg) | |
| 5 | g.151822821G>T | CA361849944 | GLRA1 | c.1202C>A (p.Pro401Gln) c.1226C>A (p.Pro409Gln) c.*960C>A (n.*960C>A) c.953C>A (p.Pro318Gln) | |
| 5 | g.151822822G>A | CA361849946 | GLRA1 | c.1201C>T (p.Pro401Ser) c.1225C>T (p.Pro409Ser) c.*959C>T (n.*959C>T) c.952C>T (p.Pro318Ser) | |
| 5 | g.151822822G>C | CA361849947 | GLRA1 | c.1201C>G (p.Pro401Ala) c.1225C>G (p.Pro409Ala) c.*959C>G (n.*959C>G) c.952C>G (p.Pro318Ala) | |
| 5 | g.151822822G>T | CA361849948 | GLRA1 | c.1201C>A (p.Pro401Thr) c.1225C>A (p.Pro409Thr) c.*959C>A (n.*959C>A) c.952C>A (p.Pro318Thr) | |
| 5 | g.151822823G>A | CA447226588 | GLRA1 | c.1200C>T (p.Ser400=) c.1224C>T (p.Ser408=) c.*958C>T (n.*958C>T) c.951C>T (p.Ser317=) | dbSNP |
| 5 | g.151822823G>C | CA447226589 | GLRA1 | c.1200C>G (p.Ser400=) c.1224C>G (p.Ser408=) c.*958C>G (n.*958C>G) c.951C>G (p.Ser317=) | |
| 5 | g.151822823G= | CA1591565245 | GLRA1 | c.1200C= (p.Ser400=) c.1224C= (p.Ser408=) c.*958C= (n.*958C=) c.951C= (p.Ser317=) | |
| 5 | g.151822823G>T | CA447226590 | GLRA1 | c.1200C>A (p.Ser400=) c.1224C>A (p.Ser408=) c.*958C>A (n.*958C>A) c.951C>A (p.Ser317=) | |
| 5 | g.151822824G>A | CA3523484 | GLRA1 | c.1199C>T (p.Ser400Phe) c.1223C>T (p.Ser408Phe) c.*957C>T (n.*957C>T) c.950C>T (p.Ser317Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151822824G>C | CA361849950 | GLRA1 | c.1199C>G (p.Ser400Cys) c.1223C>G (p.Ser408Cys) c.*957C>G (n.*957C>G) c.950C>G (p.Ser317Cys) | |
| 5 | g.151822824G= | CA1591565246 | GLRA1 | c.1199C= (p.Ser400=) c.1223C= (p.Ser408=) c.*957C= (n.*957C=) c.950C= (p.Ser317=) | |
| 5 | g.151822824G>T | CA361849954 | GLRA1 | c.1199C>A (p.Ser400Tyr) c.1223C>A (p.Ser408Tyr) c.*957C>A (n.*957C>A) c.950C>A (p.Ser317Tyr) | |
| 5 | g.151822825A= | CA1591565247 | GLRA1 | c.1198T= (p.Ser400=) c.1222T= (p.Ser408=) c.*956T= (n.*956T=) c.949T= (p.Ser317=) | |
| 5 | g.151822825A>C | CA361849957 | GLRA1 | c.1198T>G (p.Ser400Ala) c.1222T>G (p.Ser408Ala) c.*956T>G (n.*956T>G) c.949T>G (p.Ser317Ala) | |
| 5 | g.151822825A>G | CA3523485 | GLRA1 | c.1198T>C (p.Ser400Pro) c.1222T>C (p.Ser408Pro) c.*956T>C (n.*956T>C) c.949T>C (p.Ser317Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151822825A>T | CA361849960 | GLRA1 | c.1198T>A (p.Ser400Thr) c.1222T>A (p.Ser408Thr) c.*956T>A (n.*956T>A) c.949T>A (p.Ser317Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151822826C>A | CA361849963 | GLRA1 | c.1197G>T (p.Lys399Asn) c.1221G>T (p.Lys407Asn) c.*955G>T (n.*955G>T) c.948G>T (p.Lys316Asn) | |
| 5 | g.151822826C>G | CA361849965 | GLRA1 | c.1197G>C (p.Lys399Asn) c.1221G>C (p.Lys407Asn) c.*955G>C (n.*955G>C) c.948G>C (p.Lys316Asn) | |
| 5 | g.151822826C>T | CA447226591 | GLRA1 | c.1197G>A (p.Lys399=) c.1221G>A (p.Lys407=) c.*955G>A (n.*955G>A) c.948G>A (p.Lys316=) | gnomAD v4 |
| 5 | g.151822826_151822835del | CA2768928633 | GLRA1 | c.1188_1197del (p.Ser398GlnfsTer?) c.1212_1221del (p.Ser406GlnfsTer?) c.*946_*955del (n.*946_*955del) c.939_948del (p.Ser315GlnfsTer?) | |
| 5 | g.151822827T>A | CA361849969 | GLRA1 | c.1196A>T (p.Lys399Met) c.1220A>T (p.Lys407Met) c.*954A>T (n.*954A>T) c.947A>T (p.Lys316Met) | |
| 5 | g.151822827T>C | CA361849970 | GLRA1 | c.1196A>G (p.Lys399Arg) c.1220A>G (p.Lys407Arg) c.*954A>G (n.*954A>G) c.947A>G (p.Lys316Arg) | |
| 5 | g.151822827T>G | CA361849967 | GLRA1 | c.1196A>C (p.Lys399Thr) c.1220A>C (p.Lys407Thr) c.*954A>C (n.*954A>C) c.947A>C (p.Lys316Thr) | |
| 5 | g.151822828T>A | CA361849973 | GLRA1 | c.1195A>T (p.Lys399Ter) c.1219A>T (p.Lys407Ter) c.*953A>T (n.*953A>T) c.946A>T (p.Lys316Ter) | |
| 5 | g.151822828T>C | CA361849971 | GLRA1 | c.1195A>G (p.Lys399Glu) c.1219A>G (p.Lys407Glu) c.*953A>G (n.*953A>G) c.946A>G (p.Lys316Glu) | |
| 5 | g.151822828T>G | CA361849972 | GLRA1 | c.1195A>C (p.Lys399Gln) c.1219A>C (p.Lys407Gln) c.*953A>C (n.*953A>C) c.946A>C (p.Lys316Gln) | |
| 5 | g.151822829A= | CA1591565248 | GLRA1 | c.1194T= (p.Ser398=) c.1218T= (p.Ser406=) c.*952T= (n.*952T=) c.945T= (p.Ser315=) | |
| 5 | g.151822829A>C | CA447226592 | GLRA1 | c.1194T>G (p.Ser398=) c.1218T>G (p.Ser406=) c.*952T>G (n.*952T>G) c.945T>G (p.Ser315=) | |
| 5 | g.151822829A>G | CA3523486 | GLRA1 | c.1194T>C (p.Ser398=) c.1218T>C (p.Ser406=) c.*952T>C (n.*952T>C) c.945T>C (p.Ser315=) | dbSNP ExAC gnomAD v4 |
| 5 | g.151822829A>T | CA447226593 | GLRA1 | c.1194T>A (p.Ser398=) c.1218T>A (p.Ser406=) c.*952T>A (n.*952T>A) c.945T>A (p.Ser315=) | |
| 5 | g.151822830G>A | CA361849976 | GLRA1 | c.1193C>T (p.Ser398Phe) c.1217C>T (p.Ser406Phe) c.*951C>T (n.*951C>T) c.944C>T (p.Ser315Phe) | COSMIC |
| 5 | g.151822830G>C | CA130006274 | GLRA1 | c.1193C>G (p.Ser398Cys) c.1217C>G (p.Ser406Cys) c.*951C>G (n.*951C>G) c.944C>G (p.Ser315Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151822830G= | CA1591565249 | GLRA1 | c.1193C= (p.Ser398=) c.1217C= (p.Ser406=) c.*951C= (n.*951C=) c.944C= (p.Ser315=) | |
| 5 | g.151822830G>T | CA361849981 | GLRA1 | c.1193C>A (p.Ser398Tyr) c.1217C>A (p.Ser406Tyr) c.*951C>A (n.*951C>A) c.944C>A (p.Ser315Tyr) |